ORPHA:316
Progressive symmetric erythrokeratodermia
Synonyms: Darier-Gottron disease · Erythrokeratodermia progressiva symmetrica · Progressive symmetric erythrokeratodermia, Gottron type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Erythrokeratoderma variabilis progressiva
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive symmetric erythrokeratodermia | Darier-Gottron disease · Erythrokeratodermia progressiva symmetrica · Progressive symmetric erythrokeratodermia, Gottron type |
| fr | Erythrokératodermie progressive et symétrique | Erythrokératodermie progressive et symétrique type Gottron · Maladie de Darier-Gottron · PSEK |
| de | Erythrokeratodermie, progressive symmetrische | Darier-Gottron-Krankheit · Erythrokeratodermia progressiva symmetrica · Progressive symmetrische Erythrokeratodermie Typ Gottron |
| es | Eritroqueratodermia simétrica progresiva | Enfermedad de Darier-Gottron · Eritroqueratodermia progresiva simétrica tipo Gottron |
| it | Eritrocheratodermia simmetrica progressiva | Eritrocheratodermia simmetrica progressiva, tipo Gottron · Malattia di Darier-Gottron |
| nl | Erytrokeratodermia progressiva symmetrica | Progressieve symmetrische erytrokeratodermie, Gottron-type · Progressiva symmetrica erytrokeratodermia · Ziekte van Darier-Gottron |
| pt | Eritroqueratodermia simétrica progressiva | Doença de Darier-Gottron |
| pl | Postępująca erytrokeratodermia symetryczna | Choroba Darier i Gottrona · Postępująca erytrokeratodermia symetryczna · Postępująca erytrokeratodermia symetryczna, typ Gottrona |
| cs | Progresivní symetrická erytrokeratodermie | Darier-Gottronova nemoc · Erythrokeratodermia progressiva symmetrica · Profresivní symetrická erytrokeratodermie, Gottronův typ |
| uk | Прогресуюча симетрична еритрокератодермія | Хвороба Дарє-Готтрона · Еритрокератодермія прогресуюча симетрична · Прогресуюча симетрична еритрокератодермія, тип Готтрона |
| zh | 进行性对称性红斑角化病 | 进行性对称性红斑角化病Gottron型 |
| tr | İlerleyici simetrik eritrokeratodermi | Darier-Gottron hastalığı · Eritrokeratodermi progresiva simetrika · İlerleyici simetrik eritrokeratodermi, Gottron tipi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617756 | BTNT | validated | |
| OMIM | 618531 | BTNT | validated | |
| OMIM | 619209 | BTNT | not yet validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.0Y | NTBT | index | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:308166Erythrokeratoderma variabilis progressiva
rare genetic diseases; rare skin diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LORICRIN | Candidate gene tested in | Not yet assessed | HGNC:6663 | ENSG00000203782 | 152445 | 1q21.3 | loricrin cornified envelope precursor protein | |
| TRPM4 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:17993 | ENSG00000130529 | 606936 | 19q13.33 | transient receptor potential cation channel subfamily M member 4 | 30528822[PMID] |
| KDSR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4021 | ENSG00000119537 | 136440 | 18q21.33 | 3-ketodihydrosphingosine reductase | 28575652[PMID] |
| KRT83 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6460 | ENSG00000170523 | 602765 | 12q13.13 | keratin 83 | 27965375[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010783 | Erythema | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0200035 | Skin plaque | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/316
- This record as JSON: /data/d/316.json